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KH
MCID: KPS002
MIFTS: 46

Kaposiform Hemangioendothelioma (KH)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Kaposiform Hemangioendothelioma

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MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 53 59 6 73
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 53
Kaposiform Hemangio-Endothelioma 53
Khe 53
Kh 53

Characteristics:

Orphanet epidemiological data:

59
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 59 ORPHA2122
ICD10 via Orphanet 34 D18.0
MESH via Orphanet 45 C537007
UMLS via Orphanet 74 C1367420
UMLS 73 C1367420
Sources

Summaries for Kaposiform Hemangioendothelioma

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2122Disease definitionKaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.Visit the Orphanet disease page for more resources.

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and capillary hemangioma. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and skin, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and cardiovascular system

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Related Diseases for Kaposiform Hemangioendothelioma

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Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 31.5 FLI1 FLT4 KDR PECAM1
2 capillary hemangioma 30.5 KDR PECAM1
3 sarcoma 30.3 FLI1 KDR MTOR
4 lymphangioma 30.2 FLT4 KDR PROX1
5 hemangioma 30.0 CD34 FLT4 KDR PECAM1 PROX1
6 angioma, tufted 11.8
7 hemangioma-thrombocytopenia syndrome 11.8
8 lymphangiomatosis 10.4
9 lymphedema 10.2
10 fragile x syndrome 10.2
11 lymphatic malformations 10.2 FLT4 PROX1
12 skin hemangioma 10.1 KDR PROX1
13 hennekam syndrome 10.1 FLT4 PROX1
14 hemangioma, capillary infantile 10.1 FLT4 KDR
15 intussusception 10.1
16 kaposi sarcoma 10.1
17 laryngomalacia 10.1
18 neurofibromatosis, type i 10.1
19 neurofibromatosis, type iv, of riccardi 10.1
20 rheumatoid arthritis 10.1
21 ascites, chylous 10.1
22 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
23 arthritis 10.1
24 spinal muscular atrophy 10.1
25 hereditary lymphedema 10.1
26 scoliosis 10.1
27 hemopericardium 10.1
28 pericardial effusion 10.1
29 duodenal obstruction 10.1
30 pneumonia 10.1
31 intestinal obstruction 10.1
32 hemophilia 10.1
33 aplasia cutis congenita 10.1
34 fetal edema 10.1
35 hydrops fetalis 10.1
36 proximal spinal muscular atrophy 10.1
37 pyogenic granuloma 10.1
38 soft tissue sarcoma 10.1
39 ewing's family of tumors 10.1 FLI1 MTOR
40 pulmonary vein stenosis 10.1 KDR PECAM1
41 radiation proctitis 10.0 KDR PECAM1
42 monoclonal paraproteinemia 10.0 MTOR VWF
43 breast carcinoma in situ 10.0 FLT4 KDR
44 drug-induced lupus erythematosus 10.0 KDR VWF
45 hobnail hemangioma 10.0 CD34 FLT4
46 senile angioma 9.9 CD34 KDR
47 erythema elevatum diutinum 9.9 CD34 PECAM1
48 esophageal cancer 9.9
49 pallister-hall syndrome 9.9
50 small cell cancer of the lung 9.9

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:



Diseases related to Kaposiform Hemangioendothelioma
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Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

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GenomeRNAi Phenotypes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.8 FLT4 KDR MTOR

MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 FLI1 FLT4 KDR MTOR PECAM1 PROX1
2 cellular MP:0005384 9.91 CD34 FLI1 KDR MTOR PECAM1 PROX1
3 hematopoietic system MP:0005397 9.87 CD34 FLI1 KDR MTOR PECAM1 PROX1
4 homeostasis/metabolism MP:0005376 9.8 CD34 FLT4 KDR MTOR PECAM1 PROX1
5 immune system MP:0005387 9.76 CD34 FLI1 FLT4 KDR MTOR PECAM1
6 liver/biliary system MP:0005370 9.35 FLI1 FLT4 KDR PECAM1 PROX1
7 muscle MP:0005369 9.1 FLI1 FLT4 KDR MTOR PECAM1 PROX1
Sources

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5
Everolimus Approved Phase 2 159351-69-6 6442177
6
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Propranolol Approved, Investigational Phase 2 525-66-6 4946
9
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
10
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
11 tannic acid Approved Phase 2
12
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
13 Autonomic Agents Phase 2
14 Hormones Phase 2
15 Antihypertensive Agents Phase 2
16 Hormone Antagonists Phase 2
17 Anti-Arrhythmia Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Antineoplastic Agents, Hormonal Phase 2
20 Adrenergic Antagonists Phase 2
21 Anti-Infective Agents Phase 2
22 Adrenergic beta-Antagonists Phase 2
23 Immunologic Factors Phase 2
24 Antiemetics Phase 2
25 Adrenergic Agents Phase 2
26 Protective Agents Phase 2
27 Prednisolone acetate Phase 2
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Antibiotics, Antitubercular Phase 2
31 Neurotransmitter Agents Phase 2
32 Neuroprotective Agents Phase 2
33 Antifungal Agents Phase 2
34 Anti-Bacterial Agents Phase 2
35 glucocorticoids Phase 2
36 Vasodilator Agents Phase 2
37 Peripheral Nervous System Agents Phase 2
38 Gastrointestinal Agents Phase 2
39 Methylprednisolone acetate Phase 2
40 Antineoplastic Agents, Phytogenic Phase 2
41 Antimitotic Agents Phase 2
42 Endothelial Growth Factors
43 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
2 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors Recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
3 Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
4 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
5 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

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Genetic Tests for Kaposiform Hemangioendothelioma

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Anatomical Context for Kaposiform Hemangioendothelioma

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MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

41
Bone, Endothelial, Skin, Spleen, Kidney, Lung, Bone Marrow
Sources

Publications for Kaposiform Hemangioendothelioma

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Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 160)
# Title Authors Year
1
Sirolimus for treatment of Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon: A retrospective cohort study. ( 29388191 )
2018
2
Clinical and imagingA features ofA Kaposiform Hemangioendothelioma. ( 29536769 )
2018
3
Impact of sirolimus treatment for refractory kaposiform hemangioendothelioma with exacerbation of the disease 10a88years after initial diagnosis. ( 29872523 )
2018
4
Association between extremity kaposiform hemangioendothelioma and lymphedema. ( 29266383 )
2018
5
Atypically presenting kaposiform hemangioendothelioma of the knee: ultrasound findings. ( 29637402 )
2018
6
Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract. ( 29554025 )
2018
7
Vascular Tumors in Infants: Case Report and Review of Clinical, Histopathologic, and Immunohistochemical Characteristics of Infantile Hemangioma, Pyogenic Granuloma, Noninvoluting Congenital Hemangioma, Tufted Angioma, and Kaposiform Hemangioendothelioma. ( 29561329 )
2018
8
<i>Pneumocystis Jirovecii</i> Pneumonia During Sirolimus Therapy for Kaposiform Hemangioendothelioma. ( 29610164 )
2018
9
Kaposiform hemangioendothelioma without cutaneous involvement. ( 30293120 )
2018
10
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. ( 30372769 )
2018
11
Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review. ( 30466240 )
2018
12
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. ( 29999213 )
2018
13
Successful Management of Kaposiform Hemangioendothelioma with Long-Term Sirolimus Treatment: a Case Report and Review of the Literature. ( 30002799 )
2018
14
Sirolimus Treatment of an Infant With Intrathoracic Kaposiform Hemangioendothelioma Complicated by Life-threatening Pleural and Pericardial Effusions. ( 30044355 )
2018
15
Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options. ( 30054848 )
2018
16
First Intracardiac Kaposiform Hemangioendothelioma in an Infant Resolved With Sirolimus: A Case Report. ( 30067556 )
2018
17
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in an infant: Successful treatment with prednisolone, vincristine, and addition of sirolimus. ( 30070028 )
2018
18
Musculoskeletal complication in kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon: clinical characteristics and management. ( 30233248 )
2018
19
Successful Management of Pancreatic Kaposiform Hemangioendothelioma With Sirolimus: Case Report and Literature Review. ( 28426496 )
2017
20
Kaposiform hemangioendothelioma in an adult with rheumatoid arthritis. ( 29154372 )
2017
21
Sirolimus for the treatment of progressive kaposiform hemangioendothelioma: A multicenter retrospective study. ( 28486787 )
2017
22
Identical Presentation of Scapular Osteolysis in Two Patients with Thoracic Kaposiform Hemangioendothelioma. ( 28382716 )
2017
23
Long-term outcome for kaposiform hemangioendothelioma: A report of two cases. ( 27701822 )
2017
24
Intestinal obstruction due to kaposiform hemangioendothelioma in a 1-month-old infant: A case report. ( 28906349 )
2017
25
Pancreatic Kaposiform Hemangioendothelioma Not Responding to Sirolimus. ( 28761800 )
2017
26
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin. ( 29240034 )
2017
27
Imaging findings of Kaposiform Hemangioendothelioma in children. ( 28027747 )
2017
28
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus. ( 28220608 )
2017
29
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
2017
30
Restricted Range of Motion and a Cold Upper Extremity in a Two-Year-Old Boy: Kaposiform Hemangioendothelioma of the Bone and the Brachial Plexus: A Case Report. ( 29286963 )
2017
31
C-Kit, CD34 & α-SMA Immunohistochemical Features in Classic Kaposi Sarcoma and Kaposiform Hemangioendothelioma. ( 30023237 )
2017
32
Treatment of kaposiform hemangioendothelioma and tufted angioma. ( 27252149 )
2016
33
Multifocal Kaposiform Hemangioendothelioma Causing Massive Fetal Chylous Ascites. ( 27983885 )
2016
34
Kaposiform Hemangioendothelioma: Multifocal Involvement, Chylothorax, and Kasabach-Merritt Phenomenon. ( 27820128 )
2016
35
Surgical treatment of a huge kaposiform hemangioendothelioma in the chest wall: A case study. ( 28228957 )
2016
36
Response to Paclitaxel in an Adult Patient with Advanced Kaposiform Hemangioendothelioma. ( 27721772 )
2016
37
Neonatal kaposiform hemangioendothelioma of the spleen associated with Kasabach-Merritt phenomenon. ( 27342010 )
2016
38
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
39
Adult-onset Kaposiform hemangioendothelioma of the tongue: case report and review of the literature. ( 27803613 )
2016
40
Recurrent multifocal cutaneous Kaposiform hemangioendothelioma: A rare vascular tumor of infancy and childhood. ( 27510687 )
2016
41
Abdominal Kaposiform Hemangioendothelioma Associated With Lymphangiomatosis Involving Mesentery and Ileum: A Case Report of MRI, CT, and 18F-FDG PET/CT Findings. ( 26871848 )
2016
42
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
43
Role of Sirolimus in Advanced Kaposiform Hemangioendothelioma. ( 26864138 )
2016
44
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2016
45
Clinical Outcomes for Systemic Corticosteroids Versus Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma. ( 27196448 )
2016
46
Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol. ( 27100060 )
2016
47
Interferon-alpha therapy for refractory kaposiform hemangioendothelioma: a single-center experience. ( 27796340 )
2016
48
Sirolimus for treatment of kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon. ( 27981218 )
2016
49
Kaposiform Hemangioendothelioma in a 3A Months Old Infant. ( 27408442 )
2016
50
Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy. ( 26907642 )
2016
Sources

Variations for Kaposiform Hemangioendothelioma

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ClinVar genetic disease variations for Kaposiform Hemangioendothelioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNA14 NM_004297.3(GNA14): c.614A> T (p.Gln205Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 80043932: 80043932
2 GNA14 NM_004297.3(GNA14): c.614A> T (p.Gln205Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 77429016: 77429016
Sources

Expression for Kaposiform Hemangioendothelioma

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Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.
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Pathways for Kaposiform Hemangioendothelioma

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Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.65 FLT4 GNA14 KDR MTOR
2
p70S6K Signaling 64
Show member pathways
 12.62 FLT4 GNA14 KDR MTOR
3
PI3K-Akt signaling pathway 37
Show member pathways
 12.46 FLT4 KDR MTOR VWF
4
NF-kappaB Signaling 4
12.2 CD34 FLI1 PECAM1
5
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.13 FLT4 KDR MTOR
6
Apoptosis Pathway 72
Show member pathways
 11.97 FLT4 KDR MTOR
7
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.76 FLT4 KDR MTOR
8
AKT Signaling Pathway 67
11.59 FLT4 KDR MTOR
9
ECM-receptor interaction 37
Show member pathways
 11.51 KDR PECAM1 VWF
10
Vemurafenib Pathway, Pharmacodynamics 61
11.1 FLT4 KDR
11
Angiogenesis (CST) 4
10.97 FLT4 KDR PECAM1 PROX1 VWF
12
VEGF binds to VEGFR leading to receptor dimerization 66
Show member pathways
 10.16 FLT4 KDR
Sources

GO Terms for Kaposiform Hemangioendothelioma

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Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.7 FLT4 KDR PECAM1
2 extracellular matrix organization GO:0030198 9.67 KDR PECAM1 VWF
3 positive regulation of protein phosphorylation GO:0001934 9.65 FLT4 KDR MTOR
4 protein autophosphorylation GO:0046777 9.63 FLT4 KDR MTOR
5 hemostasis GO:0007599 9.54 FLI1 VWF
6 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.51 FLT4 KDR
7 vascular endothelial growth factor signaling pathway GO:0038084 9.43 FLT4 KDR
8 lymph vessel development GO:0001945 9.4 FLT4 PROX1
9 lymphangiogenesis GO:0001946 9.37 FLT4 PROX1
10 positive regulation of endothelial cell migration GO:0010595 9.33 FLT4 KDR PROX1
11 positive regulation of vasculogenesis GO:2001214 9.32 CD34 KDR
12 endothelium development GO:0003158 9.26 CD34 KDR
13 glomerular endothelium development GO:0072011 8.96 CD34 PECAM1
14 positive regulation of endothelial cell proliferation GO:0001938 8.92 FLT4 KDR MTOR PROX1

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 FLT4 KDR
2 growth factor binding GO:0019838 8.96 FLT4 KDR
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 FLT4 KDR
Sources

Sources for Kaposiform Hemangioendothelioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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